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ErkrankungArachnodaktylie, kongenitale kontrakturale; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Arachnodaktylie, kongenitale kontrakturale, mit zusammen genommen 31 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
AP9239
Anzahl Gene
31 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
8,8 kb (Core-/Basis-Gene)
114,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
FBN28739AD
CBS1656AR
COL11A15421AD und/oder AR
COL11A25211AD und/oder AR
COL12A19192AD
COL2A14464AD
COL6A13087AD und/oder AR
COL6A23060AD und/oder AR
COL6A39534AD und/oder AR
COL9A12766AD und/oder AR
COL9A22070AD und/oder AR
COL9A32055AD und/oder AR
ECEL12328AR
FBN18616AD und/oder Mult
FKBP101749AR
MYBPC13516AD und/oder AR
MYH35823AD und/oder AR
MYH85814AD
NALCN5217AD und/oder AR
PIEZO28259AD und/oder AR
PLOD22277AR
SCARF22613AR
SMAD21404AD
SMAD31278AD
TGFB21245AD
TGFB31239AD
TGFBR11512AD
TGFBR21704AD
TNNI2549AD
TNNT3777AD
TPM2855AD

Infos zur Erkrankung

Synonyme
  • Alias: Beals syndrome (FBN2)
  • Alias: Congenital contractural arachnodactyly (FBN2)
  • Allelic: Macular degeneration, early-onset (FBN2)
  • Achondrogenesis, type II or hypochondrogenesis (COL2A1)
  • Arthrogryposis, distal, type 1A (TPM2)
  • Arthrogryposis, distal, type 1B (MYBPC1)
  • Arthrogryposis, distal, type 2A [Freeman-Sheldon] (MYH3)
  • Arthrogryposis, distal, type 2B1 (TNNI2)
  • Arthrogryposis, distal, type 2B2 (TNNT3)
  • Arthrogryposis, distal, type 2B3 [Sheldon-Hall] (MYH3)
  • Arthrogryposis, distal, type 2B4 (TPM2)
  • Arthrogryposis, distal, type 3 (PIEZO2)
  • Arthrogryposis, distal, type 5 (PIEZO2)
  • Arthrogryposis, distal, type 5D Arthrogryposis, distal, type 5D (ECEL1)
  • Arthrogryposis, distal, with impaired proprioception a+ touch (PIEZO2)
  • Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
  • Bethlem myopathy 2 (COL12A1)
  • Boudin-Mortier syndrome (NPR3)
  • Bruck syndrome 1 (FKBP10)
  • Bruck syndrome 2 (PLOD2)
  • Congenital contractures of the limbs + face, hypotonia + developmental delay (NALCN)
  • Contractural arachnodactyly, congenital (FBN2)
  • Contractures, pterygia + spondylocarpostarsal fusion syndrome 1A (MYH3)
  • Contractures, pterygia + spondylocarpotarsal fusion syndrome 1B (MYH3)
  • Czech dysplasia (COL2A1)
  • Epiphyseal dysplasia, multiple, 2 (COL9A2)
  • Epiphyseal dysplasia, multiple, 3, with/-out myopathy (COL9A3)
  • Epiphyseal dysplasia, multiple, 6 (COL9A1)
  • Epiphyseal dysplasia, multiple, with myopia + deafness (COL2A1)
  • Fibrochondrogenesis 1 (COL11A1)
  • Fibrochondrogenesis 2 (COL11A2)
  • Homocystinuria, B6-responsive + nonresponsive types (CBS)
  • Kniest dysplasia (COL2A1)
  • Legg-Calve-Perthes disease (COL2A1)
  • Lethal congenital contracture syndrome 4 (MYBPC1)
  • Loeys-Dietz syndrome 1 (TGFBR1)
  • Loeys-Dietz syndrome 2 (TGFBR2)
  • Loeys-Dietz syndrome 3 (SMAD3)
  • Loeys-Dietz syndrome 4 (TGFB2)
  • Loeys-Dietz syndrome 5 (TGFB3)
  • Loeys-Dietz syndrome [MONDO:0018954] (SMAD2)
  • MASS syndrome (FBN1)
  • Marden-Walker syndrome (PIEZO2)
  • Marfan syndrome (FBN1)
  • Marshall syndrome (COL11A1)
  • Myosclerosis, congenital (COL6A2)
  • Osteogenesis imperfecta, type XI (FKBP10)
  • Otospondylomegaepiphyseal dysplasia, AD + AR (COL11A2)
  • Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
  • SED congenita (COL2A1)
  • SMED Strudwick type (COL2A1)
  • Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
  • Spondyloperipheral dysplasia (COL2A1)
  • Stickler syndrome, type I (COL2A1)
  • Stickler syndrome, type II (COL11A1)
  • Stickler syndrome, type IV (COL9A1)
  • Stickler syndrome, type V (COL9A2)
  • Trismus-pseudocamptodactyly syndrome (MYH8)
  • Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
  • Ullrich congenital muscular dystrophy 2 (COL12A1)
  • Van den Ende-Gupta syndrome (SCARF2)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder Mult
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q68.8

Bioinformatik und klinische Interpretation

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